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TGTCGTCAACTCCTCAGCAGAACTG[T/A]TAGTTGTTGGGCTGCAGCAAGGGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 164770 | ||||||||||||||||||||
Literature Links: |
CSF1R PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CSF1R - colony stimulating factor 1 receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288705.1 | 3199 | Nonsense Mutation | TAA,TAT | *,Y 969 | NP_001275634.1 | |
NM_005211.3 | 3199 | Nonsense Mutation | TAA,TAT | *,Y 969 | NP_005202.2 |
HMGXB3 - HMG-box containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014983.2 | 3199 | Intron | NP_055798.2 | |||
XM_006714765.2 | 3199 | Intron | XP_006714828.1 |